Imagem 1

Example: RPL12P6, GAPDH, ENSG00000237984

Summary

Retrocopy Name TIMM8AP1
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Plot displaying the genomic locations of a retrocopy (in chr2) and its respective parental gene (in chrX). Each line represents a retrocopy.
Species Homo sapiens
Coordinates (hg38) chr2:162076514-162077711  UCSC
Coordinates (T2T) chr2:162533151-162534348  UCSC
Coordinates (hg19) chr2:162933024-162934221  UCSC
Strand -
Parental Sequence NM_004085.4
Parental seq. overlap 1159 bp
Parental seq. overlap (%) 95.2%
Genomic Region Intergenic
Retrocopy Summary TIMM8AP1, located on chr2:162076514-162077711, is a retrocopy of the parental gene TIMM8A. Retrocopies of protein-coding genes, also known as processed pseudogenes, are intriguing genomic elements with implications in genome evolution and diseases. While some retrocopies are non-functional, there are examples of retrocopies (retrogenes) acquiring regulatory roles or exhibiting neofunctionalization unrelated to their parental genes.

Parental Gene

Gene Name TIMM8A
Full Name translocase of inner mitochondrial membrane 8A
Also known as DDP|DDP1|DFN1|MTS|TIM8
Coordinate chrX:101345661-101348742
Strand -
Gene summary This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009]

Homology

Species Scientific Name Retrocopy
Bonobo Pan paniscus TIMM8AP1
Gorilla Gorilla gorilla TIMM8AP1
Orangutan Pongo abelii TIMM8AP1
Gibbon Nomascus leucogenys TIMM8AP1
Chimpanzee Pan troglodytes Without Homology
Green monkey Chlorocebus sabaeus Without Homology
Crab-eating macaque Macaca fascicularis Without Homology
Rhesus Macaca mulatta Without Homology
Baboon Papio anubis Without Homology
Golden snub-nosed monkey Rhinopithecus roxellana Without Homology
Marmoset Callithrix jacchus Without Homology
Mouse lemur Microcebus murinus Without Homology
Mouse Mus musculus Without Homology
Rat Rattus norvegicus Without Homology
Chinese hamster Cricetulus griseus Without Homology
Rabbit Oryctolagus cuniculus Without Homology
Pig Sus scrofa Without Homology
Cow Bos taurus Without Homology
Sheep Ovis aries Without Homology
Dolphin Tursiops truncatus Without Homology
Horse Equus caballus Without Homology
Dog Canis familiaris Without Homology
Panda Ailuropoda melanoleuca Without Homology
Cat Felis catus Without Homology
Pale spear-nosed bat Phyllostomus discolor Without Homology
Velvety free-tailed bat Molossus molossus Without Homology
Greater mouse-eared bat Myotis myotis Without Homology
Kuhl's pipistrelle Pipistrellus kuhlii Without Homology
Greater horseshoe bat Rhinolophus ferrumequinum Without Homology
Egyptian rousette Rousettus aegyptiacus Without Homology
Sloth Choloepus didactylus Without Homology
Tasmanian Devil Sarcophilus harrisii Without Homology
Opossum Monodelphis domestica Without Homology
Platypus Ornithorhynchus anatinus Without Homology
Chicken Gallus gallus Without Homology
Turkey Meleagris gallopavo Without Homology
Zebra Finch Taeniopygia guttata Without Homology
Budgerigar Melopsittacus undulatus Without Homology
Painted Turtle Chrysemys picta Without Homology
Lizard Anolis Carolinensis Without Homology
Frog Xenopus tropicalis Without Homology
Zebrafish Danio rerio Without Homology
Drosophila Drosophila melanogaster Without Homology

Expression

The Genotype-Tissue Expression project - (GTEx)

Adipose SubcutaneousMuscle SkeletalArtery TibialArtery CoronaryHeart Atrial AppendageAdipose VisceralUterusVaginaBreast Mammary TissueSkin Not Sun ExposedMinor Salivary GlandBrain CortexAdrenal GlandThyroidLungSpleenPancreasEsophagus MuscularisEsophagus MucosaEsophagus Gastroesophageal JunctionStomachColon SigmoidSmall Intestine Terminal IleumColon TransverseProstateTestisNerve TibialSkin Sun ExposedHeart Left VentricleBrain CerebellumWhole BloodArtery AortaPituitaryBrain Frontal CortexBrain CaudateBrain Nucleus AccumbensBrain PutamenBrain HypothalamusBrain Spinal CordBrain HippocampusBrain Anterior Cingulate CortexOvaryBrain Cerebellar HemisphereLiverBrain Substantia NigraKidney CortexBrain AmygdalaCervix EctocervixFallopian TubeCervix EndocervixBladderKidney Medulla012
log10(TPM+1)

Massive Mining of Publicly Available RNA-seq Data from Human and Mouse - (ARCHS4)

AdiposeBone MarrowBreast Mammary TissueBrain CerebellumColonColon Colonic MucosaEsophagusHeartHeart VentricleKidneyLiverBrain MidbrainOvaryPancreasBrain PonsKidney CortexEye RetinaMuscle SkeletalSkinSmall IntestineBrain Spinal CordSpleenTestisThymusTracheaHeart ValveMuscle Smooth012
log10(TPM+1)

Related Sequence

>TIMM8AP1
GTCGTGGAGACACGTGAAGGTTGGTGCGGAGTTCGTCTCTGCAAGCATGGTTGTCCTGGGATGGATTCCTCCTGCTCTTCCTCTGCGGCGGGTTTGGGTGCAGTGGACCCGCAGTTGCAGCATTTTCATTGAGGTAGAGACTCAAAAGCAGCGCTTCCAGCAGCTGGTGCACCAGATGACTGAACTTTGTTGGGAGAAGTGCATGGACAAGCCTGGGCCAAAGTTGGACAGTCGGGCTGAGGCCTGTTTTGTGAACTGCATTGAGCGCTTCATTGATACAAGCCAGTTCATCTTGAATTGACTGCAACAGACCCAGAAATCCAAGCCAGTTTTCTCAGAAAGCCTTTCTGACTGATCTCAGCATTACCTCTTTGGAAAAGGAAGGTAGTTCAATAAATGAAGAGCTGTTGATGGGATGATTGAAGAAACAGCTATGAGAGGACTGGCTCCCATCTTTTGTTACTTTTGGGACATCCTGTCATCTGAGAATGAACAAAGACCAATTTTTTGTGTGTGAAGCTTAAGGGTCATATGTTTGCTTGTATTTTTTAATGCTAATCTTGTGAAAATAATTGACAGGTGAATGGAAAACTCTATTTAGATGCATATTACTGTACACGGGACTATGCTTTTCTCAAAGCCCCATTAACTGCTTCCTATTATTTTGATAGTGGGACCACATACATAAAAATCTCTCATTTGTGTGGAGTCATTTCGATTTCAAGGGAGATCCTTGTGTTTTTCAGAAAGGGCAGAAGTGGGGGAAGAATAATTTAGTATCCTTATCTAGTGTTTGATTATCAATGCTGGAGAAAAATATCTGTAAGAGTGTTTATACAGTACACTTCAGTTTTCTTGATGATCTCCCTTTCCTATATGATGATTTGCTTAAATATCCATATTAAGTATAGTCTCAAGGTAAGGTAGGCAGCCTGAGAGTCTAGAGGTCTTTAGTTTTAAAGGAATCTAGCCAGTGAACATAATTCTTATTACTAGACTGCCACAAGGAAGAAATTAACTTACCCTGTATATCAGGGTACAAAAAATTCAATGATGTGCCTAAATAAGTTATAAAGATTTAGGCCAATCATAAGCTAACAGCAGTTTCAGGTAGAGGTGCATGCCTAATGTTAATTAGTGTAGATTCCATTTACTGCATTCTTTTGATCACTGAAATAAAAGCTATATAAGATTCAAA
>NM_004085.4
AGCTGTGGTTCCGGTTCCGTCGCGGAGACACGTGAAGGTCGGTGCGGAGTTCGTCTCTGCAAGCTTGGTCGCCCTGGGATGGATTCCTCCTCCTCTTCCTCCGCGGCGGGTTTGGGTGCAGTGGACCCGCAGTTGCAGCATTTCATCGAGGTAGAGACTCAAAAGCAGCGCTTCCAGCAGCTGGTGCACCAGATGACTGAACTTTGTTGGGAGAAGTGCATGGACAAGCCTGGGCCAAAGTTGGACAGTCGGGCTGAGGCCTGTTTTGTGAACTGCGTTGAGCGCTTCATTGATACAAGCCAGTTCATCTTGAATCGACTGGAACAGACCCAGAAATCCAAGCCAGTTTTCTCAGAAAGCCTTTCTGACTGATCTCAGCATTACCTCTTTGGAAAAGGAAGGTAGTTCAAGAAATGAAGAGCTGTTGATGGGATGATTGAAGAAACAGCTATGAGAGGATTGGCTCCCATCTTTTGTTACTCTTGGGACATCCTGTCATCTGAGAATGAACAAAGACCAATTTTTTGTGTGTGAAGCTTAAGGGTCATATGTTTGCTTGTATTTTTTAATGCTAATCTTGTGAAAATAATTGACAGGCGAAAGAAAACTCTATTTAGATGCATATTACTGTACATGGGACTATGCTTTTCTCAAAGCCCCATTAACTGCTTCCTATAATTTTGATAGTGGGACCACATACGTAAAAATCTCTCATTTGTGTGGAGTCATTTCTGATTTCAGGGGAGATCCTTGTGTTTATCAGAAAGGGCAGAAGTAGGGGAAGAATAATTTGGTATCCTTATCTAGTGTTTGATTGTCAATGCTGGAGAAAAATATCTGTAAGAGTGTTTATACAGTACACTTCAGTTATCTTGATCTCCCTTTCCTATATGATGATTTGCTTAAATATCCATATTAAGTAAGTCTCAAGGTAGGGTAGGCAGCCTGAGAGTCTAGAGGCCTTTAGTTATAAAGGAATCTAGCCAGTGAACATAATTCTTATTACTAGACTGCCACAAGGAAGAAATTAACTTACCCTGTATATCAGGGTACAAAAAATTCAGTGATGTGCCTAAATAAGTTATAAAGATTTAGGCCAATCAGAAGCTAACAGCAGTTTCAGGTAGAGGTGCATGCCTAATGTTAGTTAGTGTAGATTCCATTTACTGCATTCTTCTGATCACTGAAATAAAAGCTATATAAGATTCAA

Publications

PMID - Link Title
No publications available for this retrocopy